OMIA group 1106
Axonopathy
The chain reaches the human disease Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, which Mondo defines as: “An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.” It reaches 2 more human diseases, listed below.
The chain
From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.
-
Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
-
Human disease
Reached
3 Mondo diseases.
-
Human gene
Reached
1 human gene.
-
Target evidence
Reached
3 Open Targets associations, with a best score of 0.85.
-
Drugs
Stopped here
No ChEMBL drug acts on a human gene of the group's target evidence.
The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.
Natural-model score
How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.
58.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.7 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.81 | 28.4 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
57.3 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.81 | 28.3 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| domestic cattle | Bos taurus | OMIA:001106-9913 | Yes |
Genes
Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.
| Species | Animal gene | Human gene | Ortholog |
|---|---|---|---|
| domestic cattle | MFN2 mitofusin 2 NCBI Gene 534574 | MFN2 Ensembl | one to one |
Human diseases
Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.
- OMIA's own Mondo link: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0014906 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A. | OMIA's OMIM numbers |
| MONDO:0012231 | Charcot-Marie-Tooth disease type 2A2 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. | OMIA's OMIM numbers |
| MONDO:0011002 | neuropathy, hereditary motor and sensory, type 6A Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene. | OMIA's OMIM numbers |
Target evidence
Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| MFN2 | Charcot-Marie-Tooth disease type 2A2 | 0.85 | 164 | Genetic association 0.94 Genetic literature 0.85 Literature 0.17 |
| MFN2 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 0.81 | 79 | Genetic association 0.93 Genetic literature 0.84 Literature 0.03 |
| MFN2 | neuropathy, hereditary motor and sensory, type 6A | 0.81 | 66 | Genetic association 0.92 Genetic literature 0.84 Somatic mutation 0.19 Literature 0.08 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.